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Management of epilepsy in patients with Rett syndrome: perspectives and considerations

Authors Krajnc N

Received 19 January 2015

Accepted for publication 21 March 2015

Published 10 June 2015 Volume 2015:11 Pages 925—932

DOI https://doi.org/10.2147/TCRM.S55896

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Professor Garry Walsh

Natalija Krajnc

Department of Child, Adolescent and Developmental Neurology, University Children’s Hospital, Ljubljana, Slovenia

Abstract: Rett syndrome (RTT) is a common neurodevelopmental disorder that appears in infancy with regression of acquired motor skills, loss of purposeful activity, hand stereotypies, loss of acquired spoken language, and seizures. Epilepsy affects the majority of patients in a specific clinical stage of the disease and is drug resistant in approximately one-third of cases. The association of epilepsy and even drug-resistant epilepsy has been reported in certain genotypes of the methyl-CpG-binding protein 2 mutation, which is present in a majority of patients with classical RTT. The evolution of electroencephalographic abnormalities accompanying the clinical development of the syndrome is well described, but much less is known about the seizure semiology and the effectiveness of specific antiepileptic drugs. The aim of this review is to present the clinical and electrophysiological aspects of epilepsy in RTT and the current treatment approach.

Keywords: Rett syndrome, epilepsy, treatment

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